Large-Scale Metabolomic Profiling for the Diagnosis of Inborn Errors of Metabolism

Mayo Clinic

Status: Completed

Conditions: Congenital Disorders of Glycosylation

Study type: Observational

Funder types: Other; NIH

Identifiers

NCT04201067

U54NS115198-01 (U.S. NIH Grant/Contract)

16-004682

Details and patient eligibility

About

Researchers are trying to determine the efficacy of a global metabolomic approach in testing for and diagnosing inborn errors of metabolism as opposed to traditional testing methods.

Full description

Residual samples will be tested for a variety of biomarkers that may lead to better understanding of these disorders and help develop treatment options.

Enrollment: 240 patients

Sex: All

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• All individuals with specimens in Biochemical Genetics Laboratory and from patients collected under another IRB who have agreed to share samples/data

Exclusion criteria

• None